Langer mesomelic dysplasia

Preferred Label : Langer mesomelic dysplasia;

Symbol : LMD;

CISMeF acronym : LMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type; Dyschondrosteosis, homozygous;

Description : Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.;

Inheritance : Pseudoautosomal recessive;

Molecular basis : Caused by mutation in the short stature homeo box gene (SHOX, 312865.0003);

Prefixed ID : #249700;

Détails

Origin ID

249700;

UMLS CUI

C0432230;

Automatic exact mappings (from CISMeF team)
- Dextran 40 (substance) [SNOMED CT concept]
- LMD [ICHI extension code]
- Laser Capture Microdissection [NCIt concept]
- Middle lobe of right lung [FMA entity]
- dextran 40 [SNOMED Notion]
Currated CISMeF NLP mapping
- Langer Mesomelic Dysplasia [NCIt concept]
- Langer mesomelic dysplasia [MeSH concept]
- Langer mesomelic dysplasia [ORDO Disease]
- Langer mesomelic dysplasia syndrome (disorder) [SNOMED CT concept]
- Mesomelic dysplasia, Langer type [ICD-11 More detail]
- langer mesomelic dysplasia [MeSH Supplementary Concept]
- langer mesomelic dysplasia syndrome [SNOMED Notion]
False automatic mappings
- LMD [ICD-11 Extension code]
Genes related to phenotype
- Short stature homeobox [OMIM gene]
- Short stature homeobox, y-linked [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad ulna [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Lumbar hyperlordosis [HPO term]
- Madelung deformity [HPO term]
- Mesomelia [HPO term]
- Mesomelic short stature [HPO term]
- Micrognathia [HPO term]
- Radial bowing [HPO term]
- Rudimentary fibula [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short tibia [HPO term]
- Shortening of the tibia [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Langer mesomelic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Langer Mesomelic Dysplasia [NCIt concept]
- Langer mesomelic dysplasia [ORDO Disease]
- Langer mesomelic dysplasia [MeSH concept]
- Langer mesomelic dysplasia syndrome (disorder) [SNOMED CT concept]
- langer mesomelic dysplasia [MeSH Supplementary Concept]
- langer mesomelic dysplasia syndrome [SNOMED Notion]

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